Spitz tumor with RAF1 fusion: A report of 3 cases.
RAF1 fusion
Spitz tumor
Unusual melanocytic neoplasms
spitzoid morphology
Journal
Annals of diagnostic pathology
ISSN: 1532-8198
Titre abrégé: Ann Diagn Pathol
Pays: United States
ID NLM: 9800503
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
received:
21
08
2023
revised:
03
10
2023
accepted:
04
10
2023
medline:
29
11
2023
pubmed:
20
10
2023
entrez:
19
10
2023
Statut:
ppublish
Résumé
Spitz tumors are melanocytic neoplasms morphologically characterized by spindled and/or epithelioid cells and specific stromal and epidermal changes associated with mutually exclusive fusion kinases involving ALK, ROS1, NTRK1, NTRK2, NTRK3, MET and RET, BRAF and MAP3K8 genes or, less commonly, HRAS mutation. RAF1 fusions have been recently detected in cutaneous melanocytic neoplasms, including conventional melanoma, congenital nevus and BAP-1 inactivated tumors. We report herewith three Spitz neoplasms with a RAF1 fusion, including a previously reported CTDSPL::RAF1 fusion and two novel PPAP2B::RAF1 and ATP2B4::RAF1 fusions. Two cases were classified as Spitz nevus, while the remaining neoplasm was classified as Spitz melanoma at the time of the diagnosis, given 9p21 homozygous deletion and positive sentinel lymph node biopsy. We suggest that RAF1 fused melanocytic neoplasms can represent a novel subgroup of Spitz tumors, with a RAF1 fusion representing an oncogenic driver.
Identifiants
pubmed: 37856952
pii: S1092-9134(23)00113-2
doi: 10.1016/j.anndiagpath.2023.152215
pii:
doi:
Substances chimiques
Protein-Tyrosine Kinases
EC 2.7.10.1
Proto-Oncogene Proteins
0
Receptor Protein-Tyrosine Kinases
EC 2.7.10.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
152215Informations de copyright
Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest Dr. Gerami has served as a consultant for DermTech Inc. and Castle Biosciences and has received royalties for textbooks from Elsevier. All other authors report no conflicts of interest.